Tuberous sclerosis complex 2 (TSC2), also known as tuberin, is a protein that in humans is encoded by the TSC2 gene. Mutations in this gene lead to tuberous sclerosis. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases.

The TSC2 gene provides instructions for producing a protein called tuberin. Within cells, tuberin interacts with a protein called hamartin, which is produced from the TSC1 gene. These two proteins help control cell growth and division (proliferation) and cell size.

1999年7月13日 · Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric …

2024年12月25日 · TSC2 (TSC Complex Subunit 2) is a Protein Coding gene. Diseases associated with TSC2 include Lymphangioleiomyomatosis and Focal Cortical Dysplasia, Type Ii. Among its related pathways are Translation Insulin regulation of translation and MTOR signalling.

2024年9月3日 · Tuberous sclerosis involves mutations in genes TSC1 or TSC2, which are responsible for the production of proteins that regulate cell division and growth in the body.

Tuberous sclerosis is caused by the mutation of one of two tumor suppressor genes, TSC1 or TSC2. Currently, the development of novel techniques and great advances in high-throughput genetic analysis made mutation screening of the TSC1 and TSC2 genes more widely available.

Tuberous sclerosis complex (TSC) is an autosomal dominant neurodevelopmental disorder and multisystem disease caused by pathogenic DNA alterations in the TSC1 and TSC2 tumor suppressor genes. A molecular genetic diagnosis of TSC confirms the ...

2016年5月26日 · Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. The...

2025年3月4日 · Gene target information for TSC2 - TSC complex subunit 2 (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

It has recently been shown that TSC2 has GTPase-activating protein (GAP) activity towards the Ras family small GTPase Rheb (Ras homolog enriched in brain), and TSC1/2 antagonizes the mTOR signaling pathway via stimulation of GTP hydrolysis of Rheb.